Ovrednotenje spletnih ponudnikov in odnos javnosti do farmakogenetskega testiranja

Pintar, Ana (author), Karas Kuželički, Nataša (mentor)

Hitro razvijajoče se področje farmakogenetike in porast spletnih ponudnikov farmakogenetskega testiranja prinašata kopico prednosti, hkrati pa se porajajo skrbi o ustreznosti testiranja in interpretaciji rezultatov. Čeprav bi individualizacija terapije ugodno vplivala na zdravje posameznikov, zdravniki tovrstnih testiranj ne priporočajo pogosto, in sicer zaradi pomanjkanja znanja in skepse do ustreznosti izvedbe in kredibilnosti rezultatov. Eden izmed vzrokov, ki vzbujajo dvom, je zagotovo tudi pomanjkanje zakonov in nadzora nad tem področjem znanosti in stroke po vsem svetu. Namen magistrske naloge je med seboj primerjati različne ponudnike farmakogenetskega testiranja in jih ovrednotiti glede na število farmakogenov in parov farmakogen-zdravilna učinkovina ter nivo dokazljivosti. Namen je tudi ugotoviti, v kolikšni meri je farmakogenetsko testiranje poznano in sprejeto v širši javnosti, ter ugotoviti glavne zadržke v zvezi z njim. Poiskali smo ponudnike farmakogenetskega testiranja in na njihovih spletnih straneh poiskali panele farmakogenov, ki jih analizirajo. Po pregledu podatkovnih baz CPIC in PharmGKB smo ponudnike ovrednotili glede na deleže parov farmakogen-zdravilna učinkovina, ki imajo najbolj oz. najmanj dokazano povezavo med farmakogeni in odzivom na zdravilno učinkovino. S spletno anketo smo skušali dobiti vpogled v poznavanje in sprejemanje farmakogenetskega testiranja v populaciji. Dobljene odgovore smo ovrednotili s statističnimi testi in ugotovili, ali se odgovori razlikujejo glede na spol, starost in stopnjo izobrazbe. S pregledom ponudnikov testiranja smo ugotovili, da spletni ponudniki med seboj niso primerljivi. Razlikujejo se v številu farmakogenov in številu parov farmakogen-zdravilna učinkovina. Medtem ko nekateri v svoje panele vključujejo farmakogene, ki ustrezajo kliničnim podatkom in smernicam, pa imajo nekateri v panelu več kot 50 % genov, za katere še ni znanih informacij o vplivu na odziv na določeno zdravilo. Z analizo vprašalnika smo ugotovili, da več kot polovica anketirancev za farmakogenetsko testiranje še ni slišala. Večina bi jih bila pripravljena analizo opraviti, če bi to pomenilo povečanje učinkovitosti terapije in zmanjšanje neželenih učinkov zdravil. Glavna zadržka, ki posameznike odvračata od farmakogenetskega testiranja, sta pomanjkanje informiranosti in prepričanje, da je testiranje nepotrebno, če ne prejemajo terapije. Pomanjkanje nadzora in regulacije nad ponudniki farmakogenetskega testiranja se je izkazalo tudi v sklopu analize ponudnikov te storitve. Paneli so raznoliki, ni pa nadzora nad tem, ali ustrezajo preverjenim kliničnim podatkom in smernicam. Pri statistični analizi vprašalnika so se odgovori statistično pomembno razlikovali pri vprašanju o ceni in zadržkih do testiranja v odvisnosti od starosti. Višje stroške testiranja bi bila pripravljena plačati mlajša populacija, vendar pa bi si želeli tudi večje informiranosti glede farmakogenetskega testiranja.

• Language: Slovenian
• Keywords: farmakogenetsko testiranje, spletni ponudniki, farmakogen, vprašalnik.
• Work type: Master's thesis/paper
• Organization: FFA - Faculty of Pharmacy
• Year: 2025
• PID: 20.500.12556/RUL-174226
• Publication date in RUL: 30.09.2025

Secondary language

• Language: English
• Title: Evaluation of on-line providers and public perception of pharmacogenetic testing

Abstract

The rapidly evolving field of pharmacogenetics and the rise of online providers of pharmacogenetic testing brings many benefits, but also raises concerns about the adequacy of testing and the interpretation of results. Although individualisation of therapy would have a beneficial impact on the health of individuals, such testing is not often recommended by physicians due to a lack of knowledge and scepticism about the validity of the performance and the credibility of the results. One of the reasons for this scepticism is certainly the lack of legislation and supervision in this field of science and healthcare worldwide. The aim of this master thesis is to compare different pharmacogenetic testing providers and to evaluate them in terms of the number of pharmacogenes, pharmacogene-drug substance pairs and the level of evidence and to find out to what extent pharmacogenetic testing is known and accepted by the general public, and to identify key concerns regarding its use. We searched for pharmacogenetic testing providers and found pharmacogenetic panels analysed on their websites. After reviewing the CPIC and PharmGKB databases, we evaluated the providers according to the proportions of pharmacogene-active substance pairs that have the most or the least proven association between pahrmacogenes and the organism's response to the active substance. The on-line survey sought to gain insight into the knowledge and acceptance of pharmacogenetic testing in the general population. The responses were evaluated using statistical tests to determine whether the responses differed according to gender, age and level of education. We found significant differences between online providers in the number of pharmacogenes and the number of pharmacogen-active substance pairs. While some include pharmacogenes in their panels that are consistent with clinical data and guidelines, some have more than 50% of genes in their panels for which there is no known information about their effect on drug response. Our analysis of the survey found that more than half of respondents had never heard of pharmacogenetic testing. Most of them would be willing to undergo the analysis if it would increase the effectiveness and reduce the side effects of medicines. The main concerns that discourage individuals from pharmacogenetic testing are lack of information and the belief that testing is unnecessary if they are not receiving therapy. The lack of supervision and regulation of pharmacogenetic testing providers was also evident in the analysis of pharmacogenetic testing providers. The panels are diverse, but there is no oversight of whether they meet validated clinical data and guidelines. In the statistical analysis of the survey, the responses differed statistically significantly for the price question and for the age-dependent barriers to testing. Younger people would be willing to pay higher testing costs, but would also like to be better informed about pharmacogenetic testing.

• Keywords: pharmacogenetic testing, online providers, pharmacogene, survey.